| Title | Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. |
| Publication Type | Journal Article |
| Year of Publication | 2013 |
| Authors | Powell, BC, Jiang, L, Muzny, DM, Treviño, LR, Dreyer, ZE, Strong, LC, Wheeler, DA, Gibbs, RA, Plon, SE |
| Journal | Pediatr Blood Cancer |
| Volume | 60 |
| Issue | 6 |
| Pagination | E1-3 |
| Date Published | 2013 Jun |
| ISSN | 1545-5017 |
| Keywords | Exome, Female, Genetic Predisposition to Disease, Humans, Male, Pedigree, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Tumor Suppressor Protein p53 |
| Abstract | Although acute lymphocytic leukemia (ALL) is the most common childhood cancer, genetic predisposition to ALL remains poorly understood. Whole-exome sequencing was performed in an extended kindred in which five individuals had been diagnosed with leukemia. Analysis revealed a nonsense variant of TP53 which has been previously reported in families with sarcomas and other typical Li Fraumeni syndrome-associated cancers but never in a familial leukemia kindred. This unexpected finding enabled identification of an appropriate sibling bone marrow donor and illustrates that exome sequencing will reveal atypical clinical presentations of even well-studied genes. |
| DOI | 10.1002/pbc.24417 |
| Alternate Journal | Pediatr Blood Cancer |
| PubMed ID | 23255406 |
| PubMed Central ID | PMC3926299 |
| Grant List | R01 CA138836 / CA / NCI NIH HHS / United States T32 GM007526 / GM / NIGMS NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States |